rs2198341

Homo sapiens
G>A
SLC4A4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0116 (3499/29972,GnomAD)
A=0147 (4307/29118,TOPMED)
A=0186 (929/5008,1000G)
A=0050 (193/3854,ALSPAC)
A=0060 (224/3708,TWINSUK)
chr4:71197327 (GRCh38.p7) (4q13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
70 Enhancers around
37 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.71197327G>A
GRCh37.p13 chr 4NC_000004.11:g.72063044G>A
SLC4A4 RefSeqGeneNG_012653.1:g.15042G>A

Gene: SLC4A4, solute carrier family 4 member 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC4A4 transcript variant 1NM_001098484.2:c.N/AIntron Variant
SLC4A4 transcript variant 3NM_001134742.1:c.N/AIntron Variant
SLC4A4 transcript variant 2NM_003759.3:c.N/AGenic Upstream Transcript Variant
SLC4A4 transcript variant X9XM_011532390.2:c.N/AGenic Upstream Transcript Variant
SLC4A4 transcript variant X7XM_017008792.1:c.N/AGenic Upstream Transcript Variant
SLC4A4 transcript variant X8XM_017008793.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.731A=0.269
1000GenomesAmericanSub694G=0.910A=0.090
1000GenomesEast AsianSub1008G=0.790A=0.210
1000GenomesEuropeSub1006G=0.952A=0.048
1000GenomesGlobalStudy-wide5008G=0.814A=0.186
1000GenomesSouth AsianSub978G=0.740A=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.950A=0.050
The Genome Aggregation DatabaseAfricanSub8710G=0.753A=0.247
The Genome Aggregation DatabaseAmericanSub836G=0.920A=0.080
The Genome Aggregation DatabaseEast AsianSub1618G=0.774A=0.226
The Genome Aggregation DatabaseEuropeSub18506G=0.951A=0.048
The Genome Aggregation DatabaseGlobalStudy-wide29972G=0.883A=0.116
The Genome Aggregation DatabaseOtherSub302G=0.930A=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.852A=0.147
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.940A=0.060
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs21983410.000724alcohol dependence24277619

eQTL of rs2198341 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs2198341 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr47204988172050696E067-12348
chr47205075172050806E067-12238
chr47205157572051635E067-11409
chr47209513372095204E06732089
chr47209524272095812E06732198
chr47209595172096544E06732907
chr47209743772097505E06734393
chr47210089172101012E06737847
chr47204988172050696E068-12348
chr47209524272095812E06832198
chr47210742772107989E06844383
chr47205157572051635E069-11409
chr47208381872083868E06920774
chr47208393872084024E06920894
chr47209513372095204E06932089
chr47209524272095812E06932198
chr47209743772097505E06934393
chr47210089172101012E06937847
chr47205157572051635E070-11409
chr47207644672076567E07013402
chr47207662072076806E07013576
chr47209513372095204E07032089
chr47209524272095812E07032198
chr47209595172096544E07032907
chr47209783072098005E07034786
chr47209805372098120E07035009
chr47209844072098562E07035396
chr47209870072098771E07035656
chr47209881472099144E07035770
chr47209917872099275E07036134
chr47210089172101012E07037847
chr47205157572051635E071-11409
chr47209513372095204E07132089
chr47209524272095812E07132198
chr47209743772097505E07134393
chr47209783072098005E07134786
chr47210089172101012E07137847
chr47210110972101871E07138065
chr47206164672062046E072-998
chr47209513372095204E07232089
chr47209524272095812E07232198
chr47209513372095204E07332089
chr47209524272095812E07332198
chr47209743772097505E07334393
chr47209783072098005E07334786
chr47210089172101012E07337847
chr47210520972105395E07342165
chr47205157572051635E074-11409
chr47209513372095204E07432089
chr47209524272095812E07432198
chr47209595172096544E07432907
chr47210089172101012E07437847
chr47210110972101871E07438065
chr47206164672062046E081-998
chr47209144872091523E08128404
chr47209513372095204E08132089
chr47209524272095812E08132198
chr47209595172096544E08132907
chr47209783072098005E08134786
chr47209805372098120E08135009
chr47210089172101012E08137847
chr47210110972101871E08138065
chr47207289872073051E0829854
chr47207310072073242E08210056
chr47209513372095204E08232089
chr47209524272095812E08232198
chr47209595172096544E08232907
chr47209743772097505E08234393
chr47210089172101012E08237847
chr47210110972101871E08238065










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr47205170772054421E067-8623
chr47205458772054716E067-8328
chr47205474372054946E067-8098
chr47210191972102245E06738875
chr47210230772102357E06739263
chr47205170772054421E068-8623
chr47205458772054716E068-8328
chr47205474372054946E068-8098
chr47205532672055477E068-7567
chr47210191972102245E06838875
chr47210230772102357E06839263
chr47210261572102665E06839571
chr47205170772054421E069-8623
chr47205170772054421E070-8623
chr47205458772054716E070-8328
chr47205474372054946E070-8098
chr47205532672055477E070-7567
chr47210191972102245E07038875
chr47205170772054421E071-8623
chr47205458772054716E071-8328
chr47205474372054946E071-8098
chr47205532672055477E071-7567
chr47205170772054421E072-8623
chr47205458772054716E072-8328
chr47205474372054946E072-8098
chr47210191972102245E07238875
chr47210230772102357E07239263
chr47205170772054421E073-8623
chr47210191972102245E07338875
chr47210230772102357E07339263
chr47210261572102665E07339571
chr47205170772054421E074-8623
chr47205170772054421E081-8623
chr47205458772054716E081-8328
chr47205474372054946E081-8098
chr47205532672055477E081-7567
chr47205170772054421E082-8623